Incidental Mutation 'R5356:Nherf2'
ID 501004
Institutional Source Beutler Lab
Gene Symbol Nherf2
Ensembl Gene ENSMUSG00000002504
Gene Name NHERF family PDZ scaffold protein 2
Synonyms 2010007A20Rik, Slc9a3r2, 1200011K07Rik, Tka-1, Sip-1, Sip1, Octs2, E3karp, Nherf2, Sryip1, 0610011L07Rik
MMRRC Submission 042935-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5356 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24858255-24869279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24860945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000019684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002572] [ENSMUST00000019684] [ENSMUST00000047611]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000002572
AA Change: V199A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002572
Gene: ENSMUSG00000002504
AA Change: V199A

DomainStartEndE-ValueType
PDZ 19 91 6.31e-21 SMART
PDZ 159 231 8.79e-20 SMART
Pfam:EBP50_C 232 284 5.1e-13 PFAM
Pfam:EBP50_C 261 337 2.3e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000019684
AA Change: V88A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019684
Gene: ENSMUSG00000002504
AA Change: V88A

DomainStartEndE-ValueType
PDZ 48 120 8.79e-20 SMART
Pfam:EBP50_C-term 186 226 2.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047611
SMART Domains Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 24 37 N/A INTRINSIC
low complexity region 55 68 N/A INTRINSIC
ENDO3c 126 276 1.06e-58 SMART
FES 277 297 4.82e-3 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and overtly normal and display normal cAMP- and cGMP-activated CFTR transepithelial chloride transport and bicarbonate secretion in the small intestine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 C T 3: 37,119,405 (GRCm39) T162I probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Amn1 T C 6: 149,068,392 (GRCm39) I205M possibly damaging Het
Ankrd50 A C 3: 38,510,334 (GRCm39) S678A probably damaging Het
Atg13 G A 2: 91,522,811 (GRCm39) R78* probably null Het
Bmper T G 9: 23,285,157 (GRCm39) F235L probably benign Het
Btn2a2 C T 13: 23,667,045 (GRCm39) V187I probably benign Het
Cabs1 G A 5: 88,127,492 (GRCm39) V48I probably benign Het
Cacnb3 A G 15: 98,539,498 (GRCm39) I212V probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cep162 T C 9: 87,088,948 (GRCm39) E978G probably damaging Het
Cmya5 A T 13: 93,199,993 (GRCm39) L3445Q probably damaging Het
Cntrl T A 2: 35,038,911 (GRCm39) L1067* probably null Het
Cyp20a1 G A 1: 60,418,546 (GRCm39) V329I probably benign Het
Cyp2d11 A T 15: 82,274,712 (GRCm39) N288K probably benign Het
D430041D05Rik T G 2: 104,085,754 (GRCm39) T932P probably damaging Het
Dlk1 T A 12: 109,421,447 (GRCm39) C54S probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Entpd6 T A 2: 150,612,303 (GRCm39) F416L probably damaging Het
Evx1 A G 6: 52,293,602 (GRCm39) T257A probably benign Het
Fpr-rs3 A T 17: 20,844,596 (GRCm39) S182T probably damaging Het
Glra3 A T 8: 56,393,936 (GRCm39) I16F probably benign Het
Gm11437 C A 11: 84,043,513 (GRCm39) L259F possibly damaging Het
Gorasp1 A T 9: 119,757,024 (GRCm39) L386Q probably damaging Het
Gpsm1 T C 2: 26,230,574 (GRCm39) V508A possibly damaging Het
Gstm1 T A 3: 107,920,052 (GRCm39) I180F probably benign Het
Hc T C 2: 34,885,007 (GRCm39) D1400G probably benign Het
Lrp2 A G 2: 69,295,052 (GRCm39) V3422A possibly damaging Het
Map3k4 A G 17: 12,466,195 (GRCm39) V1128A possibly damaging Het
Mboat2 G C 12: 25,007,572 (GRCm39) V363L probably benign Het
Mgat3 A G 15: 80,095,811 (GRCm39) I213V possibly damaging Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mtf2 A T 5: 108,254,476 (GRCm39) T426S possibly damaging Het
Muc3a T C 5: 137,245,021 (GRCm39) I151V probably benign Het
Myh6 T C 14: 55,191,219 (GRCm39) E874G probably damaging Het
Myo15a G A 11: 60,389,192 (GRCm39) G2030R probably damaging Het
Ncdn T C 4: 126,641,021 (GRCm39) Y493C probably damaging Het
Ncoa6 A G 2: 155,263,112 (GRCm39) F441L probably damaging Het
Ndc80 A T 17: 71,828,103 (GRCm39) S75T possibly damaging Het
Nf1 T C 11: 79,364,282 (GRCm39) F1571L possibly damaging Het
Nme8 A G 13: 19,836,469 (GRCm39) F236L probably damaging Het
Nsmce4a C A 7: 130,138,778 (GRCm39) V289L probably damaging Het
Ntrk2 A T 13: 59,208,056 (GRCm39) D634V probably damaging Het
Pcsk6 G C 7: 65,620,340 (GRCm39) E479Q probably damaging Het
Pkd1 A G 17: 24,812,551 (GRCm39) Q3828R probably damaging Het
Ptov1 T A 7: 44,514,089 (GRCm39) T295S probably damaging Het
Ptprf A G 4: 118,083,535 (GRCm39) M824T probably benign Het
Rbm6 T A 9: 107,729,865 (GRCm39) H129L probably damaging Het
Rbm8a2 A G 1: 175,806,255 (GRCm39) I74T possibly damaging Het
Ret A G 6: 118,174,079 (GRCm39) S6P possibly damaging Het
Rspo3 A T 10: 29,376,064 (GRCm39) C70* probably null Het
Sike1 C A 3: 102,909,106 (GRCm39) A202D possibly damaging Het
Slco4c1 G T 1: 96,759,835 (GRCm39) P499H probably damaging Het
Smg1 A G 7: 117,794,356 (GRCm39) probably benign Het
Tmem135 A G 7: 88,954,723 (GRCm39) V98A probably benign Het
Tor4a T A 2: 25,085,918 (GRCm39) probably null Het
Txlna A G 4: 129,524,166 (GRCm39) F397S probably damaging Het
Tyk2 A G 9: 21,027,040 (GRCm39) I581T probably benign Het
Unc13a C T 8: 72,115,158 (GRCm39) D164N probably benign Het
Vwa3b T C 1: 37,153,664 (GRCm39) I502T probably damaging Het
Xrcc6 A G 15: 81,913,419 (GRCm39) T6A probably benign Het
Zfp524 T C 7: 5,021,432 (GRCm39) V320A probably benign Het
Other mutations in Nherf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02676:Nherf2 APN 17 24,860,930 (GRCm39) missense probably damaging 1.00
R1843:Nherf2 UTSW 17 24,860,693 (GRCm39) missense possibly damaging 0.75
R2199:Nherf2 UTSW 17 24,859,570 (GRCm39) missense probably null 0.37
R2912:Nherf2 UTSW 17 24,861,215 (GRCm39) missense probably damaging 1.00
R4774:Nherf2 UTSW 17 24,863,873 (GRCm39) start codon destroyed probably null 0.01
R5352:Nherf2 UTSW 17 24,861,229 (GRCm39) missense probably damaging 1.00
R5562:Nherf2 UTSW 17 24,860,798 (GRCm39) missense probably benign 0.06
R5841:Nherf2 UTSW 17 24,863,851 (GRCm39) missense probably benign
R7231:Nherf2 UTSW 17 24,869,078 (GRCm39) missense probably damaging 1.00
R7338:Nherf2 UTSW 17 24,869,182 (GRCm39) start gained probably benign
R7539:Nherf2 UTSW 17 24,860,873 (GRCm39) missense probably damaging 0.99
R8276:Nherf2 UTSW 17 24,861,234 (GRCm39) nonsense probably null
R8750:Nherf2 UTSW 17 24,861,233 (GRCm39) missense probably damaging 0.98
R8875:Nherf2 UTSW 17 24,866,703 (GRCm39) critical splice acceptor site probably null
R8913:Nherf2 UTSW 17 24,863,839 (GRCm39) missense probably benign
R9594:Nherf2 UTSW 17 24,868,922 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTAGTGGCTGCACTGACC -3'
(R):5'- TGTATGTCCCTGAATGTCCATGTATG -3'

Sequencing Primer
(F):5'- TGGCTGCACTGACCCTACC -3'
(R):5'- GTCCATGTATGGGCCCTG -3'
Posted On 2017-12-01